| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.157167101C>G | CA366389464 | ARID1B | c.3151C>G (p.Gln1051Glu) c.3061C>G (p.Gln1021Glu) c.3280C>G (p.Gln1094Glu) c.1165C>G (p.Gln389Glu) c.3190C>G (p.Gln1064Glu) c.2902C>G (p.Gln968Glu) c.1309C>G (p.Gln437Glu) c.472C>G (p.Gln158Glu) c.106C>G (p.Gln36Glu) n.315C>G c.519C>G c.433C>G n.1087C>G c.652C>G (p.Gln218Glu) c.2941C>G (p.Gln981Glu) c.1168C>G (p.Gln390Glu) c.103C>G (p.Gln35Glu) c.353C>G c.1981C>G (p.Gln661Glu) c.1801C>G (p.Gln601Glu) c.1561C>G (p.Gln521Glu) c.1180C>G (p.Gln394Glu) c.43C>G (p.Gln15Glu) c.3112C>G (p.Gln1038Glu) c.3013C>G (p.Gln1005Glu) c.2983C>G (p.Gln995Glu) c.2803C>G (p.Gln935Glu) n.3195C>G | dbSNP |
| 6 | g.157167101C>T | CA10584015 | ARID1B | c.3151C>T (p.Gln1051Ter) c.3061C>T (p.Gln1021Ter) c.3280C>T (p.Gln1094Ter) c.1165C>T (p.Gln389Ter) c.3190C>T (p.Gln1064Ter) c.2902C>T (p.Gln968Ter) c.1309C>T (p.Gln437Ter) c.472C>T (p.Gln158Ter) c.106C>T (p.Gln36Ter) n.315C>T c.519C>T c.433C>T n.1087C>T c.652C>T (p.Gln218Ter) c.2941C>T (p.Gln981Ter) c.1168C>T (p.Gln390Ter) c.103C>T (p.Gln35Ter) c.353C>T c.1981C>T (p.Gln661Ter) c.1801C>T (p.Gln601Ter) c.1561C>T (p.Gln521Ter) c.1180C>T (p.Gln394Ter) c.43C>T (p.Gln15Ter) c.3112C>T (p.Gln1038Ter) c.3013C>T (p.Gln1005Ter) c.2983C>T (p.Gln995Ter) c.2803C>T (p.Gln935Ter) n.3195C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |